31 Oct – 2 Nov, 2024

5th International Middle East Genetics and Metabolic Academy (MEGMA) Symposium,
JW Marriott Hotel Muscat, Oman

JW Marriott Hotel Muscat, Oman

Sponsors Coming Soon

Prof. Majid Alfadhel

President of the Symposium message

Dr. Nadia Al Hashmi

Chairperson of Oman Society of Genetic Medicine

It is my great pleasure to welcome you to the 5th International Middle East Genetics and Metabolic Academy (MEGMA) Symposium. Our annual symposium (known as MEGMA) is a premier international symposium in Medical Genetics field including Clinical, Biochemical and Laboratory Genetics.

This year’s meeting is being held in the beautiful JW Marriott Hotel Muscat, Oman.

The scientific and organizing committee has developed an exciting inter-disciplinary program. This Program includes lectures offering continuing medical education credits to clinicians; panel sessions discussing important medical genetics issues and case presentations discussing several interested genetic cases faced in the clinic. Additonally, it accepted more than 30 abstracts as poster presentations.

The continued growth of our meeting is an indication of its high quality and impact. This year, we will live three days full of scientific knowledge, sessions, and panel discussion in a friendly and family atmosphere. Special thanks go to, sponsoring companies and organizing company Leqaa for their outstanding service and contributions toward making this meeting possible.

MEGMA continues to strive to provide a unique, effective platform for medical geneticists to publish, to present, to network, and to advance their careers. If you are not an MEGMA member yet, please consider joining this dynamic academy, and join us for future MEGMA Conferences.

Again, welcome to 5th MEGMA. I appreciate your participation and hope you will find this meeting stimulating and rewarding.

Meet the Speakers

Day 1: Thursday 31st October 2024
Clinical, Biochemical and Laboratory Genetics

Prof. Majid Alfadhel

8:00-8:15 Welcome Speech

Prof. Majid Alfadhel

KSA

Dr. Nadia Al Hashmi

8:15-8:30 Speech of Chairperson of Oman Society of Genetic Medicine

Dr. Nadia Al Hashmi

Oman

8:30-9:00 Opening Ceremony

Moderators:

Dr. Khalid Al-Thihli

Dr. Khalid Al-Thihli

Dr. Nadia Al Hashmi

Dr. Nadia Al Hashmi

Prof. FOUAD

09:00-09:30 Advancing PKU Management: New Horizons and Emerging Therapies

KSA

Prof. Alberto Ortiz

9:30-10:00 Fabry Disease: Key Challenges and Strategies in Management

Prof. Alberto Ortiz

Spain

Dr. Khalid Al‐Thihli

10:00-10:30 Carbonic Anhydrase VA (CA‐VA) Deficiency: Intrafamilial and Interfamilial Phenotypic Variability

Dr. Khalid Al‐Thihli

Oman

10:30-10:40 Discussion

10:40-11:00 Coffee Break

Moderator:

Dr. AlMundher Almaawali

Dr. AlMundher Almaawali

Dr. Maria Alhania

Dr. Maria Alhania

Dr. Fathyia AlMurshidi

11:00-11:20 Response to Niacin Therapy in a Patient with NAXE Gene Defect

Dr. Fathyia AlMurshidi

Oman

Prof. Katta Girisha

11:20-11:40 Overview on Mucopolysaccharidosis Type 10

Prof. Katta Girisha

Oman

Dr. Nadia Al Hashmi

11:40-12:00 Not Simple Diarrhea: Genetics of Enteropathy

Dr. Nadia Al Hashmi

Oman

12:00-12:10 Discussion

12:10-13:10 Lunch Break

Moderator:

Dr. Ilsa Crous

Dr. Ilsa Crous

Dr. Malak Alghamdi

Dr. Malak Alghamdi

Dr. AMAL

13:10-13:30 Hereditary Orotic Aciduria Management: How Can We Optimize Diagnosis and Treatment?

Dr. Amal Al Teneiji

UAE

Prof. Emil Kakkis

13:30-13:50 The Approach of Developing Novel Therapy for Rare Diseases

Prof. Emil Kakkis

USA

Prof. Zuhair

13:50-14:10 Living with Genetics and Genetic Disease: A Saudi Narrative

Speaker: Prof. Zuhair Alhassnan

KSA

Prof. tawfig

14:10-14:30 Pediatric Spinal Muscular Atrophy, The Impact of Timely Diagnosis on Treatment Outcome

Speaker: Prof. Tawfeg Ben-Omran

Qatar

Prof. mariam

14:30-15:00 How Can a Routine Alkaline Phosphatase Test (ALP) Lead to Diagnosis of a Rare Disease?

Speaker: Dr. Mariam AlShehhi

UAE

15:00-15:30 Coffee Break

Moderator:

Prof. Zuhair Al-Hassnan

Prof. Zuhair Al-Hassnan

15:30-17:00 Variants of Uncertain Significance (VOUS) and Carriership Findings in the Clinic: The Appropriate Approach to the Clinical Dilemma

Discussion Panel:

Prof. Amal Alhashem

Prof. Amal Alhashem

Prof. Hamad Alzaidan

Prof. Hamad Alzaidan

Dr. Hazim Najjar

Dr. Hazim Najjar

17:00-17:05 Closure of the First Day

18:00-18:20 Gala Dinner

All attendees

Day 2: Friday 1st November 2023
Clinical, Biochemical and Laboratory Genetics

Epidermolysis Bullosa in MENA region: A 360° View

Moderator:

Prof. Majid Alfadhel

Prof. Majid Alfadhel

Prof. John McGrath

Prof. John McGrath

8:00-8:10 Opening & Welcome:

Prof. Majid Alfadhel - KSA

Prof. John McGrath

8:10-8:30 Molecular Epidemiology of Junctional Epidermolysis Bullosa (JEB) and Dystrophic EB (DEB) and Genetic Testing

Prof. John McGrath

UK

Dr. ghada-el-kameh-picture

8:30-8:45 Molecular Epidemiology of EB in the Arab Nation/Mutational Analysis

Prof. Ghada El-Kamah

Egypt

Dr. Mariam Iqneibi

Neonatal Care into Early Childhood

8:45-9:00 Diagnosis and Immediate Care

Dr. Ashjan Alheggi

KSA

9:00-9:15 EB: The Saudi Experience

Dr. Sultan Alkhunaizi

KSA

Prof. John McGrath

9:15-10:00 The Evidence Base-Positive Step Forward

Prof. John McGrath

UK

Prof. Lucia Lospalluti

10:00-10:15 What is Happening in the Practice with the Introduction of Oleogel-S10 into the Clinic

Dr. Lucia Lospalluti

Italy

10:15-11:00 Symptoms Management Clinic moderated by Prof. John McGrath

Case presentation from KSA Dr. Nancy Shehata - KSA

Case presentation from Libya Dr. Abdelaziz Alahlafi - Libya

Case presentation from Qatar Dr. Fahad Almarri - Qatar

11:00-11:15 Q&A

Shaden Abdel Hadi

11:15-11:30 Establishing an EB House

Shaden Abdel Hadi (TBC)

UAE

11:30-11:30 MENA on the Map

All Participants

11:10-13:00 Jomaa Prayer and Lunch Break

Moderator:

Prof. Brahim Tabarki

Prof. Brahim Tabarki

Dr. Rana Felemban

Dr. Rana Felemban

Prof. Paul Gissen

13:00-13:30 Developing Gene Therapy for Liver Based Metabolic Disorders

Prof. Paul Gissen

UK

Dr. Nandu Thalange

13:30-13:50 Achondroplasia Navigating Growth Challenge and Management

Dr. Nandu Thalange

UAE

Dr. juan

13:50-14:10 Optimal Approach to the Management of Mucopolysaccharidosis (MPS)

Speaker: Prof. Juan Politei –

Argentina

Prof. fatema

14:10-14:40 A Treatable Cause of Hearing Loss: Alpha Mannosidosis

Prof. Fatma Al Jasmi -

UAE

14:40-15:00 Discussion

15:00-15:20 Coffee Break

Dr. Khalsa Alkhrousi

15:20-15:40 Genetic Counseling in the Arab World: Challenges and Implication

Ms. Khalsa Alkhrousi

Oman

Dr. Ghada Otaifi

15:40-16:00 Genetics of Skeletal Dysplasia – Local Experience from Early Oman

Dr. Ghada Otaifi

Oman

Dr. Aisha Albulshi

16:00-16:20 Fumarase Deficiency or Co-enzyme Q10 Deficiency

Dr. Aisha Albulshi

Oman

16:20-16:30 Discussion

Moderator: Dr. Bushra AlShamsi

16:30-17:00 Case Presentations

Each Case 10 Minutes Followed by 5 Minutes Questions

17:00-17:05 Closure of the Second Day

Day 3: Saturday 2nd November 2024
Clinical, Biochemical and Laboratory Genetics

Moderator:

Dr. Ahmed Alfares

Dr. Ahmed Alfares

Dr. Abeer AlSayegh

Dr. Abeer AlSayegh

Prof. moeen

8:00-8:30 Characterization of a Novel Rare Muscular Disease: From Clinical Diagnosis to Functional Analysis.

Dr. Marwan Nashabat

Turky

Prof. moeen

8:30-9:00 Updates on Emerging Precision Therapeutics in Inborn Errors of Metabolism.

Prof. Moeenaldeen AlSayed

KSA

Dr. Khalid Fakhro

9:00-9:25 Integrating Genomics and Metabolomics to Improve Rare Disease Diagnostic Yield

Dr. Khalid Fakhro

Qatar

Dr. Abeer AlSayegh

9:25-9:45 Clinical and Molecular Characterization of Familial Hypercholesterolemia in Omani Population

Dr. Abeer AlSayegh

Oman

Dr. Intisar Alalwi

9:45-10:05 Impact and Utility of Genomic Sequencing in Families with Chronic Kidney Disease in Oman

Dr. Intisar Alalwi

Oman

10:05-10:20 Discussion

10:20-10:40 Coffee Break

Moderator:

Dr. Chantel Van Wyk

Dr. Chantel Van Wyk

Dr. alamri

Dr. Ahmed AlAmri

Dr. Ahmed Alfares

10:40-11:00 The Medicine of Me, Personalized Health Care

Dr. Ahmed Alfares

KSA

Dr. Mohammed AlMuqbil

11:00-11:30 Friedreich Ataxia (FA): Understanding More to Reshape The Disease Course

Dr. Mohammed AlMuqbil

KSA

Dr. Maria Del Carmen Sanchez

11:30-11:55 Eurofins Megalab Expertise in Clinical Genetics, Next Generation Sequencing Services (NGS)

Dr. Maria Del Carmen Sanchez

Spain

Dr. Allison Faber

11:55-12:20 Evaluating the Benefits of Whole Genome Sequencing (WGS) Findings from 550 Pediatric Rare Diseases Cases from Middle East

Dr. Allison Faber

Germany

12:20-12:30 Discussion

12:30-13:30 Lunch Break

Dr. paul

13:30-14:10 Horizon Scanning for Novel treatments for Neuronal Ceroid Lipofuscinoses, Batten Disease

Speaker: Prof. Paul Gissen

UK

Dr. khadija

14:10-14:30 Presentation and Award for the Best Abstract

Presenter: TBA

Moderator:
Dr. Khalid Al‐ThihliDr. Khalid Al‐Thihli

14:30-15:30 Perinatal Genetics: A Journey of Challenges. The Appropriate Approach

Discussion Panel:

Prof. Fatma Aljasmi

Prof. Fatma Aljasmi (UAE)

Prof. Tawfeg Bin Omran

Prof. Tawfeg Bin Omran (Quatar)

Dr. Hind Alsharhan

Dr. Hind Alsharhan (Kuwait)

Dr. Malak Alghamdi

Dr. Malak Alghamdi (KSA)

Dr. nadia

Dr. Nadia A Hashmi (Oman)

15:30-16:00 Closure of The Symposium